Raphael Schiffmann, M.D., M.H.Sc.
Medical Director of the Institute of Metabolic Disease
Contact Information:
Phone: 214-820-4736
Clinic: 214-820-4688
Education:
Medical School: State University of Liege, Belgium
Internship: Liege University Hospital, Belgium
Residency: Pediatrics, Shaare Zedek Medical Center, Israel
Fellowship: Pediatric Neurology, Boston City Hospital and Tufts New England Medical Center,
Boston MA
Neurometabolic Diseases, Developmental and Metabolic Neurology Branch,
National Institute of Neurological Disorders and Stroke, NIH, Maryland
Master of Health Science in Clinical Research, Duke University, NC
Hospital and Clinic Affiliations:
Baylor University Medical Center at Dallas
Neurometabolic Consultants (Health Texas Provider Network). For more information about the practice or for an appointment, call 214-820-4688.
Research Interests:
• Neurometabolic diseases
• Lysosomal diseases
• Leukodystrophies
Current Research:
Therapies for Fabry disease and neuronopathic Gaucher disease
The etiologies and mechanisms of the leukodystrophies
Natural history of mucolipidosis type IV
Representative Publications:
1. Schiffmann R, Fitzgibbon EJ, Harris C, DeVile C, Davies EH, Abel L, van Schaik IN, Benko WS, Timmons M, Ries M,
Vellodi A. Randomized Controlled Trial of Miglustat in Gaucher Disease Type 3. Ann Neurol, 2008;64:514-22.
2. Schiffmann R, Askari H, Timmons T, Robinson C, Benko W, Brady RO, Ries M. Weekly Enzyme replacement therapy may slow decline of renal function in Fabry patients on long-term biweekly dosing. J Am Soc Nephrol, 2007;18:1576-83.
3. Vanderver, A, Hathout, Y, Maletkovic J, Gordon ES, Mintz M, Timmons M, Hoffman EP, Horzinski L, Niel F, Fogli, A, Boespflug-Tanguy, Schiffmann R. Sensitivity and Specificity of a Biomarker for eIF2B-related disorder: Decreased CSF Asialotransferrin. Neurology, 2008;70:2226-32.
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